Investigating rare genetic variants of unknown significance in LDHA

Authors

Animesh Dali, DePauw University
Brennan Jensen, DePauw University
Olivia Lockette, DePauw University
Duyen Nguyen, DePauw University

Files

Document Type

Poster

Publication Date

Fall 10-6-2023

Abstract

The exponential expansion and advancement of genetic sequencing has revealed the molecular basis of many genetic diseases. However, many genetic mutations are still classified as variants of unknown significance (VUS). Our lab focused on eleven missense variants in Lactate Dehydrogenase A (LDHA), an enzyme vital in anaerobic respiration. The intent with our research is to produce data on the kinetic functionality of wild type LDHA and compare this to its mutants of unknown significance. This data, supplemented with the structural information of the mutants can help reduce the ambiguity in the diagnosis of genetic disorders involving the LDHA enzyme. Currently, we have recorded the baseline kinetic function of the wild type LDHA based on its ability to convert the coenzyme NADH to NAD+. While we have a general understanding of the kinetic function of our mutant variants, A320T, T309P, L190F, E55K, D46V, P139L, G282R, K119R, T95M, G103E, and I94F, further tests need to be conducted to reduce variability.

Department

Chemistry and Biochemistry, DePauw University

Project Mentor

Sharon Crary, PhD, and Daniel Gurnon, PhD

Funding and Acknowledgements

Funding provided by the Faculty Development Fund

Recommended Citation

Dali, Animesh; Jensen, Brennan; Lockette, Olivia; and Nguyen, Duyen, "Investigating rare genetic variants of unknown significance in LDHA" (2023). Annual Student Research Poster Session. 116.
https://scholarship.depauw.edu/srfposters/116